Hs04463189_cn

• Gene Symbol: PKD1L2
• Assay Reference Genome Location: Chr.16:81122429 on build GRCh38
• Cytoband: 16q23.2

Target Gene Details

• Entrez Gene ID: 114780
• Gene Name: polycystin 1 like 2 (gene/pseudogene)
• Gene Aliases: PC1L2
• Location: Chr.16:81100879-81220370 on Build GRCh38
• Assay Gene Location: Within Intron 38

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PKD1L2	NM_001278425.1			NP_001265354.1
	NM_052892.3			NP_443124.3
	NR_126532.1
	AK131378.1			BAD18529.1
	AY164483.1			AAO32796.1
	AY371495.1			AAQ73173.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv520035	Chr.16:81112070 - 81123916 on Build GRCh38	Loss	PKD1L2
esv2751615	Chr.16:81059494 - 81273994 on Build GRCh38	Gain	PKD1L2 BCO1 GCSH C16orf46
nsv1056843	Chr.16:81120843 - 81139057 on Build GRCh38	Loss	PKD1L2
nsv1067144	Chr.16:81095693 - 81148036 on Build GRCh38	Loss	PKD1L2 GCSH
dgv510e199	Chr.16:81120968 - 81123769 on Build GRCh38	Deletion	PKD1L2
esv3639311	Chr.16:81120941 - 81123631 on Build GRCh38	Loss	PKD1L2
nsv1063460	Chr.16:81105468 - 81123780 on Build GRCh38	Gain	PKD1L2
esv2422360	Chr.16:81032428 - 81147122 on Build GRCh38	Duplication	CENPN PKD1L2 ATMIN GCSH C16orf46

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ion channel

Gene Ontology Categories:

Process(es)

detection of mechanical stimulus
calcium ion transmembrane transport

Function(s)

calcium channel activity
calcium ion binding
carbohydrate binding